Bietti Crystalline Dystrophy

Description

Bietti's crystalline dystrophy (BCD) is a rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness.

Clinical Features

Top most frequent phenotypes and symptoms related to Bietti Crystalline Dystrophy

  • Cataract
  • Visual impairment
  • Myopia
  • Blindness
  • Rod-cone dystrophy
  • Abnormality of the eye
  • Retinopathy
  • Nyctalopia
  • Congenital cataract
  • Retinal degeneration

And another 18 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Bietti Crystalline Dystrophy Is also known as bietti crystalline corneoretinal dystrophy, bcd, bietti crystalline retinopathy, bietti tapetoretinal degeneration with marginal corneal dystrophy, bietti crystalline dystrophy.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Bietti Crystalline Dystrophy Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
Retinitis Pigmentosa Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, SAG, SEMA4A, SPP2, TULP1, USH2A, CLRN1, BEST1, ARL6, RPGRIP1, CA4, C1QTNF5, CDHR1 , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
100 %
CYP4V2.

By Institute for Human Genetics University Clinic Freiburg (Germany).

CYP4V2
Specificity
100 %
Genes
100 %
Retinitis pigmentosa (NGS panel for 72 genes).

By CGC Genetics (Portugal).

RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, SAG, SEMA4A, TUB, TULP1, USH2A, CLRN1, BEST1, ARL6, CA4, ADGRA3, PRPF31, KLHL7 , (...)

View the complete list with 52 more genes
Specificity
2 %
Genes
100 %
Retinitis pigmentosa, AR and X-linked (NGS panel for 53 genes).

By CGC Genetics (Portugal).

RHO, RLBP1, RP1, RP2, RPE65, RPGR, SAG, TUB, TULP1, USH2A, BEST1, ADGRA3, RP1L1, ARL2BP, DHX38, NMNAT1, RDH11, IMPG2, RDH12, TTC8 , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
100 %
Bietti Crystalline Corneoretinal Dystrophy via CYP4V2 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

CYP4V2
Specificity
100 %
Genes
100 %
Corneal Dystrophies Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

TACSTD2, TCF4, ZEB1, TGFBI, VSX1, OVOL2, SLC4A11, COL8A2, CYP4V2, ZNF469, PIKFYVE, AGBL1, LOXHD1, DCN, CHRDL1, UBIAD1, FOXE3, GJA8, GSN, KERA , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RGS9, RHO, GRK1, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RS1, CNNM4, SAG, SDCCAG8, SEMA4A, SLC24A1, SLC4A7, SPP2, PLK4, TEAD1 , (...)

View the complete list with 286 more genes
Specificity
1 %
Genes
100 %

We have 24 more panels available in our App

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Sources and references

You can check the following sources for additional information.

MESH OMIM ORPHANET Genetic Syndrome Finder

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